ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003005199 SCV003301584 uncertain significance COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2022-04-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals affected with COG6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 628 of the COG6 protein (p.Tyr628Cys).
Ambry Genetics RCV004068488 SCV004929331 uncertain significance Inborn genetic diseases 2023-09-29 criteria provided, single submitter clinical testing The c.1883A>G (p.Y628C) alteration is located in exon 19 (coding exon 19) of the COG6 gene. This alteration results from a A to G substitution at nucleotide position 1883, causing the tyrosine (Y) at amino acid position 628 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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